Canonical Allele Identifier: CA3071928952
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40074161A= , CM000663.2:g.40074161A= GRCh38
NC_000001.10:g.40539833A= , CM000663.1:g.40539833A= GRCh37
NC_000001.9:g.40312420A= NCBI36
NG_009192.1:g.28310T= , LRG_690:g.28310T=

Transcript Alleles

HGVS Amino-acid Change
NM_000310.4:c.821T= MANE Select NP_000301.1:p.Met274=
ENST00000642050.2:c.821T= MANE Select ENSP00000493153.1:p.Met274=
NM_000310.3:c.821T= , LRG_690t1:c.821T= NP_000301.1:p.Met274=
NM_001142604.1:c.512T= NP_001136076.1:p.Met171=
NM_001142604.2:c.512T= NP_001136076.1:p.Met171=
NM_001363695.1:c.749T= NP_001350624.1:p.Met250=
NM_001363695.2:c.749T= NP_001350624.1:p.Met250=
ENST00000372775.2:n.218T=
ENST00000433473.7:c.821T= ENSP00000394863.3:p.Met274=
ENST00000433473.8:c.818T= ENSP00000394863.4:p.Met273=
ENST00000439754.5:c.434T= ENSP00000403207.1:p.Met145=
ENST00000439754.6:c.749T= ENSP00000403207.2:p.Met250=
ENST00000449045.6:c.512T= ENSP00000392293.2:p.Met171=
ENST00000449045.7:c.512T= ENSP00000392293.2:p.Met171=
ENST00000527311.6:c.596T= ENSP00000436695.2:p.Met199=
ENST00000527311.7:c.590T= ENSP00000436695.3:p.Met197=
ENST00000529905.5:c.821T= ENSP00000432053.1:p.Met274=
ENST00000530076.5:c.164T= ENSP00000434007.1:p.Met55=
ENST00000530076.6:c.164T= ENSP00000434007.1:p.Met55=
ENST00000530704.5:c.*444T= ENSP00000431655.1:n.*444T=
ENST00000530704.6:c.*444T= ENSP00000431655.1:n.*444T=
ENST00000641083.1:c.911T=
ENST00000641236.1:n.1058T=
ENST00000641319.1:c.*31T= ENSP00000493128.1:n.*31T=
ENST00000641381.1:c.243T=
ENST00000641471.1:c.908T= ENSP00000493146.1:p.Met303=
ENST00000641691.1:c.*673T= ENSP00000492910.1:n.*673T=
ENST00000641924.1:c.*250T= ENSP00000493063.1:n.*250T=
XM_005271008.1:c.749T= XP_005271065.1:p.Met250=